Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal sweat gland morphology (HP:0000971)

Parent Node:
Aplasia/Hypoplasia of the sweat glands (HP:0011135)

..Starting node
..Hypoplastic sweat glands (HP:0007387)

Term ID:

7387

Name:

Hypoplastic sweat glands

Synonym:

Underdeveloped sweat glands

Definition:

Underdevelopment of the sweat glands.

Comments:

Reference:

HP:0007387

Genes and Diseases:

Child Nodes:

........

Hypoplasia of the eccrine sweat glands (HP:0040043)

Sister Nodes:

Aplasia of the sweat glands (HP:0011136)

Aplasia/Hypoplastia of the eccrine sweat glands (HP:0007592)

Axillary apocrine gland hypoplasia (HP:0007397)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007387	HP:0007387	Hypoplastic sweat glands	0	KDF1 CL E G H	126695	26624	OMIM:617337	Ectodermal dysplasia 12, Hypohidrotic/hair/tooth/nail type	.	1
HP:0007387	HP:0040043	Hypoplasia of the eccrine sweat glands	1	CL E G H

Genes (1) :KDF1

Diseases (1) :OMIM:617337

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.